AHSA2P

activator of HSP90 ATPase homolog 2, pseudogene

Basic information

Region (hg38): 2:61177539-61186786

Previous symbols: [ "AHSA2" ]

Links

ENSG00000173209 ∙ NCBI:130872 ∙ ∙ HGNC:20437 ∙ Uniprot:Q719I0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AHSA2P gene.

• Inborn genetic diseases (17 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHSA2P gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			17	1	2	20
Total	0	0	17	1	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AHSA2P	protein_coding	protein_coding	ENST00000394457	4	13786

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000180	0.479	124909	6	831	125746	0.00333

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.906	88	67.1	1.31	0.00000294	896
Missense in Polyphen		12	8.1821	1.4666		131
Synonymous	-0.223	26	24.6	1.06	0.00000112	251
Loss of Function	0.323	6	6.92	0.867	2.93e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0123	0.0124
Ashkenazi Jewish	0.000598	0.000595
East Asian	0.0187	0.0185
Finnish	0.000370	0.000370
European (Non-Finnish)	0.00135	0.00135
Middle Eastern	0.0187	0.0185
South Asian	0.00307	0.00298
Other	0.00295	0.00294

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Co-chaperone that stimulates HSP90 ATPase activity. {ECO:0000250|UniProtKB:Q12449}.

Intolerance Scores

• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.0581
• hipred: N
• hipred_score: 0.397
• ghis: 0.558

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ahsa2
• Phenotype: vision/eye phenotype

Gene ontology

• Biological process: positive regulation of ATPase activity
• Molecular function: ATPase activator activity;protein binding;chaperone binding;Hsp90 protein binding